Microduplication 22q11.21

We had a miscarriage at 16 weeks (1st pregnancy) and testing came back with the 22q microduplication. My husband and I both got tested and he tested positive.

We are likely moving forward with ivf and pgd as I am worried about passing it on (50%) chance and if passed on, the variation in physical and cognitive delays from not being affected to mild to moderate and severe.

Looking for any similar experiences and or anyone with ivf/pgd stories for microduplications/deletions.

Comments (1)

my daughter has a 22q deletion. we didn’t find out till after birth because of some health complications. i was somewhat impressed with the doctors abilities to find an answer as to why so many things were going wrong health wise. i was tested to see if i carry this gene and my results came back normal. we were going to test my SO (significant other) but the test was so expensive. /: we won’t know if the LO (little one) i’m carrying now will have it as we didn’t do genetic testing again. my daughter is an average 10 mo old tho. not delayed at all. she has a g-tube but she’ll be done with it in no time. she also has a heart defect that is fixing itself. so in the end things worked out for us.

good luck on your IVF (in vitro fertilization) journey🌈 and i’m so sorry for your loss.

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